Annotation Detail
Information
- Associated Genes
- CDH1
- Associated Variants
-
CDH1 p.Glu763Ter (p.E763*)
(
ENST00000261769.10,
ENST00000422392.6 )
CDH1 p.Glu763Ter (p.E763*) ( ENST00000261769.10, ENST00000422392.6 ) - Associated Disease
- not provided
- Source Database
- ClinVar
- Description
- NM_004360.5(CDH1):c.2287G>T (p.Glu763Ter) AND not provided
- ClinVar Allele ID
- 139777
- ClinVar RefSeq Alternation Syntax
- NM_001317184.2:c.2104G>T
- ClinVar RefSeq Alternation Syntax
- NM_001317186.2:c.322G>T
- ClinVar RefSeq Alternation Syntax
- NM_001317185.2:c.739G>T
- ClinVar RefSeq Alternation Syntax
- NM_004360.5:c.2287G>T
- Clinical Significance Description
- Pathogenic
- Clinical Significance Last Update
- 2023-08-04
- Clinical Significance Review Status
- criteria provided, multiple submitters, no conflicts
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000223099
- ClinVar Disease
- not provided
- Observed Origin Sample
- germline
Drugs